A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5213103



Internal ID8304838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:60364381..60365474hg38UCSC Ensembl
Outerchr15:60656580..60657673hg19UCSC Ensembl
Outerchr15:58443872..58444965hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38181
hg19181
hg18181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2592269
Supporting Variants
SamplesNA18507
Known GenesANXA2
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5213103
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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